A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751967



Internal ID12638833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100580485..100736295hg38UCSC Ensembl
Innerchr3:100299329..100455139hg19UCSC Ensembl
Innerchr3:101782019..101937829hg18UCSC Ensembl
Innerchr3:101782019..101937829hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38155811
hg19155811
hg18155811
hg17155811
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv182e55
Supporting Variantsessv6982184, essv6982185, essv6986095
SamplesBEC_400
Known GenesGPR128, TFG
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751967
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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